A case report of a de novo tandem duplication (5p) (p14 → pter)

Chia, Nicole; Bousfield, L.; Johnson, Blake

doi:10.1111/j.1399-0004.1987.tb02771.x

Cited by 31 publications

(9 citation statements)

References 5 publications

(6 reference statements)

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“…This is consistent with previous reports where correlations between the 5p duplicated segment and the phenotype have been proposed. A review of the literature shows that duplications distal to 5p13.3 [Chia et al, 1987; Cervera et al, 2005] result in significantly fewer physical anomalies than duplications of the critical region 5p11‐p13.1 [Lorda‐Sánchez et al, 1997; Avansino et al, 1999], which cause more severe manifestations including macrocephaly, dolichocephaly, facial anomalies, and abnormalities of the heart, kidneys, intestine and central nervous system, as well as intellectual disability. Recurrent respiratory infections have also been described for almost all those affected with proximal trisomy 5p.…”

Section: Discussionmentioning

confidence: 99%

“…Partial or complete duplication of the short arm of chromosome 5 is a rare but well‐recognized chromosomal abnormality. Since it was first described in 1964 [Lejeune et al, 1964], further cases have been reported with different phenotypes that depend on the chromosomal region involved [Chia et al, 1987]. Genotype–phenotype correlation studies have shown that the duplication of the relatively small critical segment 5p10‐p13.1 causes the most severe phenotype, and has been proposed as the critical region for trisomy 5p syndrome [Lorda‐Sánchez et al, 1997; Avansino et al, 1999; D'Amato et al, 2002; Loscalzo et al, 2008].…”

Section: Introductionmentioning

confidence: 99%

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Characterization of a de novo complex chromosomal rearrangement in a patient with cri‐du‐chat and trisomy 5p syndromes

Vera-Carbonell

Bafalliu

Guillén-Navarro

et al. 2009

American J of Med Genetics Pt A

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Two syndromes with abnormalities of the short arm of chromosome 5 have been described: cri-du-chat (resulting from 5p deletion) and trisomy 5p. We report for the first time a patient with both syndromes, resulting from a complex chromosomal rearrangement with an inverted duplication of 5p13.1-p14.2, a deletion of 5p14.2-pter, and a duplication of 5p12, characterized by array-CGH and BAC clones. The patient showed phenotypic characteristics of both syndromes and died at 3 months of age as a result of cardiorespiratory failure, probably associated with the clinical severity of the trisomy 5p syndrome. We propose a potential causative mechanism for this rearrangement.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Characterization of a de novo complex chromosomal rearrangement in a patient with cri‐du‐chat and trisomy 5p syndromes

Vera-Carbonell

Bafalliu

Guillén-Navarro

et al. 2009

American J of Med Genetics Pt A

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“…Partial 5p trisomy is usually due to partial duplications inherited from translocation or inversion carriers and, less frequently, due to insertions or marker chromosomes (Lorda-Sanchez et al 1997;Avansino et al 1999). The patients may show duplications distal to 5p13.3 (Chia et al 1987;Webb et al 1988;Zenger-Hain et al 1993), complete 5p duplication (Reichenbach et al 1999;Velagaleti et al 2000;Grosso et al 2002), and duplication of the 5p proximal region encompassing 5p10 to 5p13 (Lorda-Sanchez et al 1997;Avansino et al 1999;D'Amato Sizonenko et al 2002). Literature shows that patients with duplications distal to 5p13.3 (Baialardo et al 2003;Cervera et al 2005) present a relatively milder phenotype compared to complete 5p duplications (Reichenbach et al 1999;Velagaleti et al 2000;Grosso et al 2002) and to duplications of the proximal regions 5p11-5p13.2, suggesting a critical region between 5p10 and 5p13.1 (Lorda-Sanchez et al 1997;Avansino et al 1999;D'Amato Sizonenko et al 2002).…”

Section: Introductionmentioning

confidence: 95%

Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation

et al. 2008

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A family with six alive patients with partial monosomy 5p and five with partial trisomy 5p due to a t(5;15)(p13.3;p12) translocation is reported. The translocation was present in four generations with eight balanced carriers. This is the first molecular-cytogenetic and clinical study with both syndromes present in the same family. Using fluorescence in situ hybridization (FISH) with bacterial artificial chromosome (BAC) probes, the breakpoint was mapped to 5p13.3, in the interval corresponding to the BAC clone RP11-1079N14, thereof resulting a 5pter-5p13.3 deletion or duplication of approximately 32 Mb. These chromosome imbalances can be considered pure, since the other imbalance produced involving chromosome 15p has no phenotypic effect. The presence of several individuals with 5p monosomy and 5p trisomy in the same family is valuable for a better delineation of both syndromes.

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“…Duplications involving complete 5p or a small segment between 5p10-5p13.1 usually manifest in a more severe phenotype; thus, this region was proposed to be the critical region for Trisomy 5p [9-11]. Meanwhile, trisomy of regions distal to 5p13 mainly causes mild and indistinct features [12]. A combination of terminal deletion and inverted duplication of 5p is infrequent in literature.…”

Section: Introductionmentioning

confidence: 99%

A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5

et al. 2014

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BackgroundRearrangements involving chromosome 5p often result in two syndromes, Cri-du-chat (CdC) and Trisomy 5p, caused by a deletion and duplication, respectively. The 5p15.2 has been defined as a critical region for CdC syndrome; however, genotype-phenotype studies allowed isolation of particular characteristics such as speech delay, cat-like cry and mental retardation, caused by distinct deletions of 5p. A varied clinical outcome was also observed in patients with Trisomy 5p. Duplications of 5p10-5p13.1 manifest themselves in a more severe phenotype, while trisomy of regions distal to 5p13 mainly causes mild and indistinct features. Combinations of a terminal deletion and inverted duplication of 5p are infrequent in literature. Consequences of these chromosomal rearrangements differ, depending on size of deletion and duplication in particular cases, although authors mainly describe the deletion as the cause of the observed clinical picture.Case presentationHere we present a 5-month-old Slovenian girl, with de novo terminal deletion and inverted duplication of chromosome 5p. Our patient presents features of both CdC and Trisomy 5. The most prominent features observed in our patient are a cat-like cry and severe malformations of the right ear.ConclusionThe cat-like cry, characteristic of CdC syndrome, is noted in our patient despite the fact that the deletion is not fully consistent with previously defined cat-like cry critical region in this syndrome. Features like dolichocephaly, macrocephaly and ear malformations, associated with duplication of the critical region of Trisomy 5p, are also present, although this region has not been rearranged in our case. Therefore, the true meaning of the described chromosomal rearrangements is discussed.

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A case report of a de novo tandem duplication (5p) (p14 → pter)

Cited by 31 publications

References 5 publications

Characterization of a de novo complex chromosomal rearrangement in a patient with cri‐du‐chat and trisomy 5p syndromes

Characterization of a de novo complex chromosomal rearrangement in a patient with cri‐du‐chat and trisomy 5p syndromes

Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation

A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5

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